Canonical Allele Identifier: CA2326919
Gene: CX3CR1 HGNC NCBI

Linked Data

dbSNP Id: rs751023067
gnomAD v2: 3-39307361-T-C
gnomAD v3: 3-39265870-T-C
gnomAD v4: 3-39265870-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39265870T>C , CM000665.2:g.39265870T>C GRCh38
NC_000003.11:g.39307361T>C , CM000665.1:g.39307361T>C GRCh37
NC_000003.10:g.39282365T>C NCBI36
NG_016362.1:g.20866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399220.3:c.640A>G MANE Select ENSP00000382166.3:p.Ile214Val
ENST00000358309.3:c.736A>G ENSP00000351059.3:p.Ile246Val
ENST00000399220.2:c.640A>G ENSP00000382166.2:p.Ile214Val
ENST00000541347.5:c.640A>G ENSP00000439140.1:p.Ile214Val
ENST00000542107.5:c.640A>G ENSP00000444928.1:p.Ile214Val
NM_001171171.1:c.640A>G NP_001164642.1:p.Ile214Val
NM_001171172.1:c.640A>G NP_001164643.1:p.Ile214Val
NM_001171174.1:c.736A>G NP_001164645.1:p.Ile246Val
NM_001337.3:c.640A>G NP_001328.1:p.Ile214Val
NM_001337.4:c.640A>G MANE Select NP_001328.1:p.Ile214Val
NM_001171171.2:c.640A>G NP_001164642.1:p.Ile214Val
NM_001171172.2:c.640A>G NP_001164643.1:p.Ile214Val